RESUMEN
By screening blood samples from patients with autosomal dominant retinitis pigmentosa, we found in one of the families a rhodopsin mutation (Pro-267-Leu), which segregates with the disease in two affected and five unaffected family members. Here, we present the results of the clinical evaluation of the family, including full-field electroretinography from the two affected family members. A 25-year-old family member with the mutation had an almost normal electrophysiological retinal response. The patient's father, who was also heterozygous for the mutation and had mild subjective symptoms of retinitis pigmentosa, demonstrated a substantially preserved retinal function. Our results suggest that the Pro-267-Leu rhodopsin mutation is associated with a very mild phenotype of retinitis pigmentosa. Young patients with the disease may have minimal pathological changes in the electroretinogram and some patients with few symptoms may be affected without acquiring a diagnosis of eye disease.
Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas , Genes Dominantes/genética , Mutación Puntual/fisiología , Prolina/genética , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/fisiopatología , Rodopsina/genética , Adulto , Electrorretinografía , Exones/genética , Enfermedades Hereditarias del Ojo/genética , Enfermedades Hereditarias del Ojo/fisiopatología , Salud de la Familia , Femenino , Pruebas Genéticas , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Mutación Puntual/genética , Análisis de Secuencia de ADN , Suecia , Agudeza Visual/genética , Agudeza Visual/fisiologíaAsunto(s)
Grabado y Grabaciones , Medicina en las Artes , Pinturas , Escultura , Trastornos de la Visión , Percepción Visual , Grabado y Grabaciones/historia , Europa (Continente) , Historia del Siglo XV , Historia del Siglo XVI , Historia del Siglo XIX , Historia del Siglo XX , Pinturas/historia , Escultura/historia , Trastornos de la Visión/historia , Trastornos de la Visión/fisiopatología , Trastornos de la Visión/psicología , Percepción Visual/fisiologíaRESUMEN
In a long-term multicenter open randomized study of 103 patients with glaucoma or intraocular hypertension, oral propranolol combined with 2% pilocarpine was compared with 0.5% topical timolol also combined with 2% pilocarpine, with respect to the effects on intraocular pressure and other signs of glaucoma. The results showed that the hypotensive effects were highly significant and equal for both treatments. There were no significant differences between the 2 groups in the amount of cupping of the nerve head or the visual field defects developing during treatment. An additive hypotensive effect was recorded when both propranolol and timolol were combined with pilocarpine, which indicates the development of tolerance to both beta-blockers. Pulse rate and blood pressure were moderately reduced in both groups, both significantly more so in the propranolol group. The investigation indicates that when combined with pilocarpine the 2 adrenergic beta-receptor blockers are equally effective. We believe that oral propranolol can improve drug compliance in the treatment of glaucoma.
Asunto(s)
Glaucoma de Ángulo Abierto/tratamiento farmacológico , Glaucoma/tratamiento farmacológico , Pilocarpina/administración & dosificación , Propranolol/administración & dosificación , Timolol/administración & dosificación , Administración Oral , Ensayos Clínicos como Asunto , Hemodinámica/efectos de los fármacos , Humanos , Soluciones Oftálmicas , Propranolol/efectos adversos , Distribución Aleatoria , Timolol/efectos adversosRESUMEN
All Swedish cases with the Sjögren-Larsson syndrome (SLS) i.e. 35 patients were studied. Glistening dots of unknown nature were seen round the foveola. These foveal and parafoveal changes seem to be a cardinal sign of SLS together with congenital ichthyosis, spastic di/tetraplegia and mental deficiency.
Asunto(s)
Fóvea Central/patología , Fondo de Ojo , Ictiosis/patología , Mácula Lútea/patología , Adolescente , Adulto , Factores de Edad , Anciano , Blefaritis/etiología , Niño , Preescolar , Conjuntivitis/etiología , Ectropión/etiología , Femenino , Humanos , Ictiosis/complicaciones , Lactante , Queratitis/etiología , Masculino , Persona de Mediana Edad , Errores de Refracción/etiología , Síndrome , Agudeza VisualRESUMEN
HLA-antigen typing of 39 patients with capsular glaucoma and 40 with simplex glaucoma showed a significantly higher frequency of Bw35 in the capsular glaucoma group compared to a control group of 985 blood donors. In the simplex glaucoma group Bw35 was less frequent and the difference was not significant.
Asunto(s)
Glaucoma/inmunología , Antígenos HLA , Epítopos , Antígenos HLA/análisis , HumanosRESUMEN
Congenital achromatopsia with amblyopia is a recessive disorder. The authors report the origin of 9 cases in 4 sibships from one small parish in northern Sweden suggesting a gene source for achromatopsia in this population. The study confirms that complete and incomplete achromatopsia might be different expressions of the same gene. A tendency towards a heterozygotic manifestation of the gene was found.
Asunto(s)
Ambliopía/genética , Defectos de la Visión Cromática/genética , Ambliopía/complicaciones , Defectos de la Visión Cromática/complicaciones , Femenino , Humanos , Masculino , Linaje , SueciaRESUMEN
Two families from northern Sweden with a total of 8 patients with typical symptoms of congenital achromatopsia with amblyopia were studied. In one of the families 4 affected children (3 brothers and 1 sister) also showed pallor of the optic discs and marked astigmatism. The transmission of the disease was consistent with an autosomal recessive inheritance in both families. The study confirmed that complete and incomplete achromatopsia might be different expressions of the same gene. Six out or 13 near relatives of the achromatic patients showed minor colour vision defects, suggesting a tendency towards heterozygotic manifestation of the gene.
Asunto(s)
Ambliopía/complicaciones , Defectos de la Visión Cromática/complicaciones , Adolescente , Adulto , Ambliopía/genética , Niño , Pruebas de Percepción de Colores , Defectos de la Visión Cromática/genética , Femenino , Genes Recesivos , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Linaje , Suecia , Agudeza VisualRESUMEN
A case report of a 43-year-old man who during convalescence after mumps (parotitis epidemica) developed bilateral glaucoma associated with redness of his eyes but no other ocular manifestations. The chamber angles were open. No signs of scleritis or iritis were present. The best treatment was found to be prednisolone topically and acetazolamide orally. After ten days the intraocular pressure was normalized and after a fortnight all treatment could be discontinued.